ClinVar Miner

List of variants in gene ORC1 reported as likely benign for Meier-Gorlin syndrome 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser) rs3087473 0.00472
NM_004153.4(ORC1):c.2226C>A (p.Ser742=) rs34644009 0.00271
NM_004153.4(ORC1):c.403-7A>C rs199834691 0.00197
NM_004153.4(ORC1):c.402+12C>T rs138085865 0.00193
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862 0.00006
NM_004153.4(ORC1):c.189G>T (p.Pro63=) rs201244952

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